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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Clinical Genetics Branch Eligibility Screening SurveyAbnormalities, Multiple, Bone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Costello syndrome, Craniofacial Abnormalities, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Legius syndrome, Li-Fraumeni syndrome, Musculoskeletal Abnormalities, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Nerve Tissue, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, Thoracic Neoplasms, anemia, aplastic anemia, bone marrow disorder, cardiofaciocutaneous syndrome, chordoma, hematologic disorder, hereditary disease, hereditary neoplastic syndrome, inherited aplastic anemia, lung neoplasm, melanocytic neoplasm, melanoma, metabolic disease, mixed neoplasm, musculoskeletal system disorder, neoplasm, neuroendocrine neoplasm, primitive neuroectodermal tumor, pulmonary blastoma, respiratory tract neoplasm, skin disorder, skin neoplasm, susceptibility to familial cutaneous melanomaNot yet recruitingNot stated2026-10-09NCT07005297
Cancer in Inherited Bone Marrow Failure SyndromesBone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Diamond-Blackfan anemia, Digestive System Diseases, Fanconi anemia, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Nutritional and Metabolic Diseases, Shwachman-Diamond syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, anemia, aplastic anemia, bone marrow disorder, dyskeratosis congenita, exocrine pancreatic insufficiency, hematologic disorder, hereditary disease, hereditary skin disorder, inherited aplastic anemia, lipomatosis, metabolic disease, pancreas disorder, pure red-cell aplasia, skin disorderRecruitingNot stated2026-10-08NCT00027274
Experience and Management of Cancer Screening-Related Anxiety in Fanconi AnemiaBone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Nutritional and Metabolic Diseases, anemia, aplastic anemia, bone marrow disorder, hematologic disorder, hereditary disease, inherited aplastic anemia, metabolic disease, neoplasmActive, not recruitingNot stated2026-10-02NCT06744283
Defining the Natural History of Squamous Cell Carcinoma in Fanconi AnemiaBone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Nutritional and Metabolic Diseases, anemia, aplastic anemia, bone marrow disorder, hematologic disorder, hereditary disease, inherited aplastic anemia, metabolic diseaseRecruitingNot stated2026-10-01NCT05687149
Eltrombopag for Fanconi AnemiaBone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cytopenia, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Inflammation, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, anemia, aplastic anemia, bone marrow disorder, hematologic disorder, hereditary disease, inherited aplastic anemia, metabolic disease, pancytopeniaActive, not recruitingPhase 22026-09-16NCT03206086
Widefield Fluorescence and Reflectance Imaging Systems and Oral Tissue Samples in Monitoring Participants at Risk for Developing Oral CancerBone Marrow Failure Disorders, Chemically-Induced Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Erythroplasia, Fanconi anemia, Head and Neck Neoplasms, Hemic and Lymphatic Diseases, Lichenoid Eruptions, Mouth Neoplasms, Neoplasms by Site, Nutritional and Metabolic Diseases, Skin Diseases, Papulosquamous, Skin and Connective Tissue Diseases, Stomatognathic Diseases, anemia, aplastic anemia, bone marrow disorder, erythroplakia, hematologic disorder, hereditary disease, hereditary mucosal leukokeratosis, hereditary skin disorder, inherited aplastic anemia, lichen planus, metabolic disease, mouth disorder, neoplasm, nicotine dependence, precancerous condition, psychiatric disorder, skin disorder, substance-related disorderActive, not recruitingNot applicable2026-09-14NCT00542373
Role of Acetaldehyde in the Development of Oral CancerBone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Fanconi anemia, Head and Neck Neoplasms, Hemic and Lymphatic Diseases, Mouth Neoplasms, Neoplasms by Site, Nutritional and Metabolic Diseases, Stomatognathic Diseases, anemia, aplastic anemia, bone marrow disorder, hematologic disorder, hereditary disease, inherited aplastic anemia, metabolic disease, mouth disorder, neoplasm, oral cavity carcinomaRecruitingNot applicable2026-07-22NCT05973656
MRI as Noninvasive Innovative Approach in Detection and Monitoring of Malignant Oral Lesions in Fanconi Anemia PatientsBone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Nutritional and Metabolic Diseases, anemia, aplastic anemia, bone marrow disorder, hematologic disorder, hereditary disease, inherited aplastic anemia, metabolic diseaseRecruitingNot stated2026-07-02NCT07649031
Familial Investigations of Childhood Cancer PredispositionAbnormalities, Multiple, Adenomatous Polyps, Adnexal Diseases, Bone Diseases, Developmental, Bone Marrow Failure Disorders, Cardiovascular Abnormalities, Carney complex, Ciliopathies, Colorectal Neoplasms, Hereditary Nonpolyposis, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, Craniofacial Abnormalities, Cronkhite-Canada syndrome, Cysts, DICER1-related tumor predisposition, DNA repair disease, Diamond-Blackfan anemia, Digestive System Diseases, Digestive System Neoplasms, Disease Attributes, Ear Diseases, Eye Diseases, Hereditary, Fanconi anemia, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, GATA2 deficiency with susceptibility to MDS/AML, Genital Diseases, Hemic and Lymphatic Diseases, Hodgkins lymphoma, Hyperpigmentation, Infant, Newborn, Diseases, Jaw Cysts, Jaw Diseases, Li-Fraumeni syndrome, Lynch syndrome, Malformations of Cortical Development, Group I, Melanosis, Musculoskeletal Abnormalities, Myosarcoma, NF2-related schwannomatosis, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Connective and Soft Tissue, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neuroectodermal Tumors, Primitive, Neuroectodermal Tumors, Primitive, Peripheral, Noonan syndrome, Nutritional and Metabolic Diseases, Otorhinolaryngologic Neoplasms, PTEN hamartoma tumor syndrome, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peutz-Jeghers syndrome, Rothmund-Thomson syndrome, Skin Abnormalities, Skin and Connective Tissue Diseases, Stomatognathic Diseases, Thoracic Neoplasms, Urogenital Diseases, Urogenital Neoplasms, X-linked disease, acoustic neuroma, acute leukemia, acute myeloid leukemia, adenocarcinoma, adenoma, adrenal cortex disorder, adrenal cortex neoplasm, adrenal gland cancer, adrenal gland disorder, anemia, angiomatosis, aplastic anemia, basal cell carcinoma, basal cell neoplasm, bone disorder, bone marrow disorder, breast disorder, breast neoplasm, carcinoma, cardiovascular disorder, central nervous system malformation, cerebral cortical dysplasia, choroid plexus carcinoma, classic familial adenomatous polyposis, colonic disorder, colorectal neoplasm, congenital heart disease, connective tissue disorder, connective tissue neoplasm, cranial nerve neoplasm, cranial nerve neuropathy, deafness-lymphedema-leukemia syndrome, digestive system disorder, digestive system neoplasm, disease susceptibility, dyskeratosis congenita, endocrine system disorder, epithelial neoplasm, eye disorder, familial rhabdoid tumor, female reproductive system disorder, female reproductive system neoplasm, gastrointestinal stromal tumor, gonadal disorder, hamartoma, heart cancer, heart disorder, hematologic disorder, hereditary Wilms tumor, hereditary breast ovarian cancer syndrome, hereditary disease, hereditary neoplastic syndrome, hereditary pheochromocytoma-paraganglioma, hereditary skin disorder, immune system disorder, immunoproliferative disorder, inherited aplastic anemia, inherited disease susceptibility, inherited neurodegenerative disorder, intestinal disorder, juvenile polyposis syndrome, lentigo, lymphatic system disorder, lymphoma, lymphoproliferative syndrome, malignant endocrine neoplasm, malignant pancreatic neoplasm, melanocytic neoplasm, melanoma, metabolic disease, mismatch repair cancer syndrome, mismatch repair cancer syndrome 1, multiple endocrine neoplasia, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2A, musculoskeletal system disorder, myelodysplastic syndrome, myomatous neoplasm, myxoma, neoplasm, nerve sheath neoplasm, nervous system disorder, neuroblastoma, neurocutaneous syndrome, neurodegenerative disease, neuroendocrine neoplasm, neuroepithelial neoplasm, neurofibroma, neurofibromatosis, neurofibromatosis type 1, neuroma, neuromuscular disease, nevoid basal cell carcinoma syndrome, non-Hodgkin lymphoma, ocular cancer, odontogenic cyst, otorhinolaryngologic disease, ovarian cancer, ovarian disorder, pancreas disorder, pancreatic neoplasm, paraganglioma, peripheral nervous system disorder, pheochromocytoma, pheochromocytoma-paraganglioma, primitive neuroectodermal tumor, pure red-cell aplasia, retinal cancer, retinal disorder, retinoblastoma, retrocochlear disease, rhabdomyosarcoma, sarcoma, schwannoma, skin disorder, skin neoplasm, skin pigmentation disorder, solitary bone cyst, tuberous sclerosis, vascular disorder, vestibulocochlear nerve disorder, von Hippel-Lindau diseaseRecruitingNot stated2026-06-17NCT03050268
Prenatal Transplantation for Fetuses With Fanconi AnemiaBone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Nutritional and Metabolic Diseases, anemia, aplastic anemia, bone marrow disorder, hematologic disorder, hereditary disease, inherited aplastic anemia, metabolic diseaseNot yet recruitingPhase 1 / Phase 22026-06-16NCT07408583
Investigation of the Genetics of Hematologic DiseasesBone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Diamond-Blackfan anemia, Fanconi anemia, Hemic and Lymphatic Diseases, Kostmann syndrome, Nutritional and Metabolic Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, anemia, aplastic anemia, blood coagulation disease, bone marrow disorder, dyskeratosis congenita, erythrocyte disorder, familial hemolytic anemia, hematologic disorder, hemolytic anemia, hereditary disease, hereditary skin disorder, inherited aplastic anemia, inherited hemoglobinopathy, leukocyte disorder, metabolic disease, myelodysplastic syndrome, pure red-cell aplasia, sickle cell disease, skin disorderRecruitingNot stated2026-06-09NCT02720679
Afatinib in Patients With Fanconi Anemia (FA) and Advanced Head and Neck Squamous Cell Carcinoma (HNSCC)Bone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Fanconi anemia, Head and Neck Neoplasms, Hemic and Lymphatic Diseases, Neoplasms by Histologic Type, Neoplasms by Site, Nutritional and Metabolic Diseases, anemia, aplastic anemia, bone marrow disorder, carcinoma, epithelial neoplasm, head and neck squamous cell carcinoma, hematologic disorder, hereditary disease, inherited aplastic anemia, metabolic disease, neoplasm, squamous cell carcinomaRecruitingPhase 1 / Phase 22026-05-27NCT06648096
Long-Term Follow-up: Phase I/II Clinical Study to Evaluate the Safety and Efficacy of the Infusion of RP-L102Bone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Nutritional and Metabolic Diseases, anemia, aplastic anemia, bone marrow disorder, hematologic disorder, hereditary disease, inherited aplastic anemia, metabolic diseaseEnrolling by invitationNot stated2026-04-14NCT07527975
Long-Term Follow-up of Subjects With Fanconi Anaemia Subtype A Treated With ex Vivo Gene TherapyBone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Fanconi anemia, Fanconi anemia complementation group A, Fanconi renotubular syndrome, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hemic and Lymphatic Diseases, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Diseases, anemia, aplastic anemia, bone marrow disorder, hematologic disorder, hereditary disease, inherited aplastic anemia, kidney disorder, metabolic disease, renal tubular transport disease, urinary system disorderActive, not recruitingNot stated2026-04-13NCT04437771
Acute GVHD Suppression Using Costimulation Blockade to Expand Non-malignant TransplantBone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Nutritional and Metabolic Diseases, anemia, aplastic anemia, bone marrow disorder, familial hemolytic anemia, graft versus host disease, hematologic disorder, hemolytic anemia, hereditary disease, immune system disorder, inherited aplastic anemia, inherited hemoglobinopathy, metabolic disease, sickle cell disease, thalassemiaActive, not recruitingPhase 22026-02-25NCT03924401
Alpha/Beta TCD HCT in Patients With Inherited BMF DisordersBone Marrow Failure, Bone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Nutritional and Metabolic Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, anemia, aplastic anemia, bone marrow disorder, dyskeratosis congenita, hematologic disorder, hereditary disease, hereditary skin disorder, inherited aplastic anemia, metabolic disease, myelodysplastic syndrome, skin disorderRecruitingPhase 22026-01-30NCT03579875
Depleted Donor Stem Cell Transplant in Children and Adults With Fanconi Anemia After Being Conditioned With a Regimen Containing BriquilimabBone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Nutritional and Metabolic Diseases, anemia, aplastic anemia, bone marrow disorder, hematologic disorder, hereditary disease, inherited aplastic anemia, metabolic diseaseRecruitingPhase 1 / Phase 22026-01-27NCT04784052
Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow FailuresBone Marrow Failure, Bone Marrow Failure Disorders, Congenital Abnormalities, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Hoyeraal-Hreidarsson syndrome, Immune Deficiency Disease, Nutritional and Metabolic Diseases, Primary Immunodeficiency Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, X-linked disease, anemia, aplastic anemia, bone marrow disorder, dyskeratosis congenita, hematologic disorder, hereditary disease, hereditary skin disorder, immune system disorder, inborn error of immunity, inherited aplastic anemia, metabolic disease, skin disorder, telomere syndromeRecruitingPhase 22025-11-28NCT04232085
HSCT for Patients With Fanconi Anemia Using Risk-Adjusted ChemotherapyBone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cytopenia, DNA repair disease, Fanconi anemia, Hemic and Lymphatic Diseases, Neoplasms by Histologic Type, Nutritional and Metabolic Diseases, acute myeloid leukemia, anemia, aplastic anemia, bone marrow disorder, hematologic disorder, hereditary disease, inherited aplastic anemia, leukemia, metabolic disease, myelodysplastic syndrome, myelodysplastic syndrome with excess blasts, myelodysplastic syndrome with single lineage dysplasia, myeloid leukemia, neoplasmRecruitingPhase 22025-11-12NCT02143830
French National Registry of Bone Marrow FailuresBone Marrow Failure Disorders, Congenital Bone Marrow Failure Syndromes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA repair disease, Diamond-Blackfan anemia, Fanconi anemia, Hemic and Lymphatic Diseases, Nutritional and Metabolic Diseases, anemia, aplastic anemia, bone marrow disorder, hematologic disorder, hereditary disease, inherited aplastic anemia, metabolic disease, pure red-cell aplasiaRecruitingNot stated2021-03-04NCT04781790